A case report of intrahepatic bile duct confluence anomalies in VACTERL syndrome

Yoonsun Yoon, Kyungju Kim, Suk Keu Yeom, Jee Hyun Lee, Yoon Lee

Research output: Contribution to journalArticle

Abstract

RATIONALE: The clinical manifestations of VACTERL association include vertebral anomalies, anal atresia, congenital heart diseases, tracheoesophageal fistula, renal dysplasia, and limb abnormalities. The association of intrahepatic anomalies and VACTERL syndrome is a rare coincidence. VACTER syndrome and intrahepatic bile drainage anomalies might be genetically related.

PATIENT CONCERNS: A 12-year-old girl presented with episodic colicky abdominal pain, nausea, and vomiting for several years. The individual episodes resolved spontaneously within a few days. She had a history of VACTERL syndrome, including a butterfly shape of the L3 vertebra, anal atresia, and an atrial septal defect.

DIAGNOSES: On laboratory findings, abnormal liver function tests included elevated total bilirubin, alanine aminotransferase, aspartate aminotransferase, and gamma-glutamyltransferase. There was no significant abnormal finding in hepatobiliary system sonography except mild gallbladder wall thickening. We performed magnetic resonance cholangiopancreatography and demonstrated an abnormal intrahepatic bile duct confluence, which showed 3 bile ducts draining directly into the neck of the gallbladder.

INTERVENTION: Her symptoms related to bile reflux during gallbladder contraction. Cholecystectomy with choledochojejunostomy was undertaken because segments of the bile drainage were intertwined.

OUTCOMES: After surgery, her symptoms decreased, but abdominal discomfort remained due to uncorrected left intrahepatic anomalies.

LESSONS: Although hepatobiliary anomalies are not included in VACTERL association diagnostic criteria, detailed hepatobiliary work up is needed when gastrointestinal symptoms are present in VACTERL association patients.

Original languageEnglish
Pages (from-to)e12411
JournalMedicine
Volume97
Issue number39
DOIs
Publication statusPublished - 2018 Sep 1

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Intrahepatic Bile Ducts
Gallbladder
Imperforate Anus
Bile
Abdominal Pain
Drainage
Bile Reflux
Magnetic Resonance Cholangiopancreatography
Choledochostomy
Tracheoesophageal Fistula
Butterflies
compound A 12
Atrial Heart Septal Defects
gamma-Glutamyltransferase
Liver Function Tests
Cholecystectomy
Aspartate Aminotransferases
Bile Ducts
Alanine Transaminase
Bilirubin

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A case report of intrahepatic bile duct confluence anomalies in VACTERL syndrome. / Yoon, Yoonsun; Kim, Kyungju; Yeom, Suk Keu; Lee, Jee Hyun; Lee, Yoon.

In: Medicine, Vol. 97, No. 39, 01.09.2018, p. e12411.

Research output: Contribution to journalArticle

Yoon, Yoonsun ; Kim, Kyungju ; Yeom, Suk Keu ; Lee, Jee Hyun ; Lee, Yoon. / A case report of intrahepatic bile duct confluence anomalies in VACTERL syndrome. In: Medicine. 2018 ; Vol. 97, No. 39. pp. e12411.
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